生殖系统发育异常及生殖内分泌学课件.ppt

1、 生殖系統發育異常及生殖系統發育異常及生殖內分泌學生殖內分泌學台北榮民總醫院婦產部何積泓醫師2009/11/02p320Duct systemGender AssignmentlFig 22-5Testis(Sex determine Region Y,SRY)Congenitaluterine anomaly2006 第一次醫師考試第一次醫師考試l性陰道發育時如發生Defective canalization 時可能會有下何種結果？1.陰道縱向中隔2.陰道橫向中隔3.處膜閉鎖4.子宮內膜中隔2006 第一次醫師考試第一次醫師考試l胎兒的性別發育過程當中，那個事件是最早發生？1.苗氏管（Mll

2、erian duct）的退化 2.伏耳夫氏管（Wlffian duct）的退化3.伏耳夫氏管的分化 4.苗氏管的分化Disorders of sex development(DSD)lSex chromosome DSDKlinefelters syndromelMost common sex chromosome aneuploidy(1:5001000)l47,XXY,48,XXXY,or mosacismlHyalinized testes and male infertilitylTestosterone supplementationlTesticular sperm extract

3、ion(TESE)and intracytoplasmic sperm injection(ICSI)lSperm donationMixed gonadal dysgenesisl45,X/46,XY and variantslDysgenetic testes,sometimes ovarian-like stroma(like Turners syndrome)lFemale external genitalia,sometimes with Mllerian structureslGonadectomy and estrogen replacement2009 第一次醫師考試第一次醫師

4、考試l染色體為 45,X/46,XY 者，性腺容長腫瘤，但下何者除外？1.Gonadoblastoma 2.Teratoma 3.Dysgerminoma 4.Yolk sac tumor Ovotestitular DSD (Ture hermaphroditism)lMixture of gonadal sexlOvotestis or one ovary+one testislAmbiguous external genitalia or significant hypospadial46,XX,46,XY,or chimerismlRemove discordant gonad and

5、 dysgenetic tissue2003 第一次醫師考試第一次醫師考試l有關真性陰陽人（true hermaphroditism）之敘述，下何者正確？1.只存在男性或性之性腺組織 2.外性器官大部分明確3.XY 基因型者，絕會出現月經 4.缺乏乳房發育Disorder of gonadol developmentlOvotesticular DSDlComplete testicular dysgenesislSwyer syndromelMutation or deletion of SRYlXY karyotype with female genitalialRemove gonad

6、as soon as possiblelAnorchialVanishing testis syndromelMale genitalia without detectable testesl46,XX testicular DSDDisorders of fetal endocrinologyl46,XX DSDlMasculinized femaleslFemale pseudohermaphroditisml46,XY DSD lIncompletely masculinized maleslMale pseudohermaphroditismMasculinizied femalesl

7、Congenital adrenal hyperplasia(AR)l21-hydroxylase(P450c21)deficiencyl11-hydroxylase(P450c11)deficiencyl3-hydroxysteroid dehydrogenese deficiencylElevated androgens in maternal circulationlDrug intakelMaternal diseaselAromatase(P450arom)deficiency2007 第一次醫師考試第一次醫師考試l懷孕時引起母親及嬰男性化，最常的原因為何？1.Dermoid cys

8、t 2.Luteoma3.Brenner tumor4.Yolk sac tumorSex hormone synthesisCongenital adrenal hyperplasia2008 第一次醫師考試第一次醫師考試l一位 21 歲性，因陰蒂肥大求診，被診斷為 congenital adrenal hyperplasia（CAH），其血中17-hydroxyprogesterone（17-HP）為 600 ng/dL。下關於 CAH 之病因及治的敘述，何者最適當？1.最常為 21-hydroxylase deficiency，治最有效為 cortisone 2.最常為 11-hydro

9、xylase deficiency，治最有效為 dexamethasone 3.最常為 21-hydroxylase deficiency，治最有效為 dexamethasone 4.最常為 11-hydroxylase deficiency，治最有效為 cortisone Incompletely masculinized maleslAndrogen insensitivity syndromelAbnormal androgen synthesislGonadotropin-resistant testislLH receptor mutationlLeydig cell hypopla

10、sialAbsent or defect anti-mllerian hormonelPersistent Mllerian duct syndromelUndescended testisAndrogenAndrogen insensitivity syndromelTesticular feminization syndromel46,XYlGene defect of Xq12l無子宮而陰道短，有睪丸但未下降l外觀為女性，無陰毛或寡陰毛l青春期後將性腺摘除，補充荷爾蒙l結婚前做人工陰道Androgen insensitivity syndromeFemale Phenotypic spe

11、ctrum MaleAbnormal androgen synthesislDefects in testicular steroidogenesis(AR)lP450 side-chain cleavagel3-hydroxysteroid dehydrogenaselP45017l17-hydroxysteroid dehydrogenasel5-reductaselLipoid congenital adrenal hyperplasialSteroidogenic acute regulatory protein(StAR)defectlImpaired cholesterol tra

12、nsportation into mitochondriaSex hormone synthesisSummary:ambiguous genitalialRule out congenital adrenal hyperplasialMedical history and family historylPalpation of gonadlPelvic ultrasonography/MRIlKaryotypelGonadectomyp320Duct systemFSHLHHypothalamic-pituitary systemPubertyAdrenarchelPubarchelAdre

13、nal androgen pubic/axillary hairlIndependent from GnRH-pituitary-ovarian maturation(gonadarche)lAdrenal androgen-stimulating factorlAdrenal enzyme activityGonadarchelIntrinsic suppression of GnRHlSensitivity to estrogen negative feedbacklAccelerated growth lBreast developmentlMenarcheGonadotropin-re

14、leasing hormone(GnRH)Two-cell theory Adrenarche2006 第二次醫師考試第二次醫師考試2008 第二次醫師考試第二次醫師考試l性青春期發育順序，最常出現之順序為：1.加速長高乳芽發育陰毛生長初經2.乳芽發育陰毛生長初經加速長高3.陰毛生長乳芽發育加速長高初經4.乳芽發育加速長高初經陰毛生長Timing of pubertylGenetic factorlGeographic locationlExposure to lightlGeneral health and nutritionlPsychologic factorTanner stagesT

15、anner stagesl性乳房發育，乳芽(budding)出現係在唐納分期(Tanner Stage)之第幾期？1.第一期 2.第二期 3.第三期 4.第四期Precocious pubertylPubertal changes before age 8lMenarche before age 10lGnRH-dependent(80%)lIdiopathiclCNS problem(brain MRI)lHypothyroidismlGnRH-independentlOvarian cyst or tumorlMcCune-Albright syndromelAdrenal tumorlE

16、ctopic gonadotropin production2005 第一次醫師考試第一次醫師考試l少性早熟（precocious puberty），第一步檢查為何？1.血中性腺激素（gonadotropin）2.雌激素3.Dehydroepiandrosterone sulfate(DHEAS)4.雄性素2005 第二次醫師考試第二次醫師考試l性性早熟（precocious puberty）指青春期發育在幾歲之前開始？1.6 歲 2.8 歲3.10 歲 4.12 歲2007 第一次醫師考試第一次醫師考試l一位6 歲小孩，初經潮，最可能為何？1.Turners syndrome2.Kallma

17、nns syndrome3.Isolated gonadotropin deficiency4.11-Hydroxylase deficiencyTreatmentlTreat intracranial or underline diseaselBone agelGnRH analogueslAromatase inhibitorDelayed pubertylNo secondary sexual characteristics by age 14lNo period by age 16lConstitutional delay(10 30%)lHypergonadotropic hypog

18、onadism(karyotype)lHypogonadotropic hypogonadismlHypothyroidismlHyperprolactinemialKallmanns syndromelIntracranial lesionlAnorexia/poor nutrition2005 第二次醫師考試第二次醫師考試l關於性青春期發育遲緩（delayed puberty），下敘述何者正確？1.第二性徵到13 歲尚未出現2.到16 歲還沒有初經3.乳房開始發育內尚未有初經4.初經在其它第二性徵發育超過5後尚未出現Thanks for your attentionHave a nice day!